SMA type 2 unrelated to chromosome 5q13

Am J Med Genet. 1998 Jan 13;75(2):193-5.

Abstract

We describe two brothers with clinical and histological findings of type 2 spinal muscular atrophy (SMA) associated with small head circumference (<2%) and normal cognitive development. No survival motor neuron (SMN) or neuronal apoptosis-inhibitory protein (NAIP) deletions were detected in these sibs, and they were discordant for the haplotypes determined by DNA markers flanking the 5q13 SMA locus. These findings support the presence of a distinct anterior horn disease unrelated to 5q13. This entity may have either autosomal recessive or X-linked inheritance.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosomes, Human, Pair 5
  • Cyclic AMP Response Element-Binding Protein
  • Gene Deletion
  • Genetic Markers
  • Haplotypes
  • Humans
  • Intelligence
  • Male
  • Muscular Atrophy, Spinal / classification
  • Muscular Atrophy, Spinal / genetics*
  • Muscular Atrophy, Spinal / pathology
  • Nerve Tissue Proteins / analysis
  • Nerve Tissue Proteins / genetics
  • Neuronal Apoptosis-Inhibitory Protein
  • RNA-Binding Proteins
  • SMN Complex Proteins

Substances

  • Cyclic AMP Response Element-Binding Protein
  • Genetic Markers
  • NAIP protein, human
  • Nerve Tissue Proteins
  • Neuronal Apoptosis-Inhibitory Protein
  • RNA-Binding Proteins
  • SMN Complex Proteins